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Phacomatosis pigmentovascularis

Other Names for this Disease
  • Association of cutaneous vascular malformations and different pigmentary disorders
  • Phakomatosis pigmentovascularis
  • PPV
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Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi.[1] A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected.[2] Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting.[2][1][3][4]
Last updated: 2/1/2011


  1. Moutray T, Napier M, Shafiq A, Fryer A, Rankin S, Willoughby CE. Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. Am J Med Genet A. 2010 Mar;
  2. Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol.. 2008 Jan; Epub 2007 Nov 28;
  3. Chekroun-Le Du L et al.,. Phacomatosis pigmentovascularis type II. European Journal of Dermatology. 1998; Accessed 2/1/2011.
  4. Narchi H et al.,. Picture of the month. Arch Pediatr Adolesc Med. 2001; Accessed 2/1/2011.
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